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Biomedical subjects

M Vitéz

Publications and source records attributed to M Vitéz.

18 recordsLinked to original sources
PubMed1993

Study of isolated apparent amniogenic limb deficiency in Hungary, 1975-1984.

A population-based and validated data set of 206 cases with apparent amniogenic limb deficiency was ascertained in Hungary between 1975 and 1984. Such limb defects frequently (36%) associated with nonlimb abnormalities. In 134 cases with isolated defects typically more limbs are affected, upper and lower limbs, right and left sides, and both sexes are equally affected. Case-control analysis of such isolated cases indicates a lower socioeconomic status of parents, a higher parity, more frequent unwanted pregnancies, preterm birth, and a higher rate of threatened abortion. Familial occurrence was not found in 415 first-degree relatives.

Abnormalities, Drug-Induced↗
PubMed1993

Causal study of isolated ulnar-fibular deficiency in Hungary, 1975-1984.

A population-based and validated data set of 114 cases with isolated ulnar-fibular deficiency was evaluated in Hungary, 1975-1984. Ulnar-fibular type had the third most common birth prevalence (0.07 per 1000) among isolated congenital limb deficiency types. This type is relatively rarely associated with nonlimb defects, a single limb is affected in two-thirds of cases, nearly all other cases had femur-fibula-ulna (FFU) dysostosis. Upper and lower limbs, right and left sides, are equally affected, however, there is an obvious male excess (71%). Case-control analysis indicated a lower birth weight due to intrauterine growth retardation, higher birth order, lower socioeconomic status of parents, and a more frequent reported subfertility. The family study identified one familial cluster (one siboccurrence) among 331 first-degree relatives.

Abnormalities, Drug-Induced↗
PubMed1993

A morphological and family study on isolated terminal transverse type of congenital limb deficiency in Hungary, 1975-1984.

A population-based and validated data set of 195 cases with isolated terminal transverse-type congenital limb deficiency was evaluated in Hungary, 1975-1984. Terminal transverse types of congenital limb deficiency are not usually associated with non-limb defects, and typically only one limb is affected. Upper limb is more frequently affected than lower (9:1) in monomelic cases. The left side and females are affected more often in upper limbs while lower limb defects are evenly distributed between right and left sides and both sexes. Familial occurrence was not found.

Congenital Abnormalities↗
PubMed1993

A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975-1984.

Radial and tibial deficiencies are frequently (70%) associated with non-limb abnormalities. Isolated radial and tibial deficiencies may have a different etiology: in this study radial deficiencies were more frequent, there were milder subtypes and one-limb involvement was found in 70% of cases, tibial deficiencies were rare, mild subtypes did not occur and in general more limbs were involved. Among multimelic cases, one case had hypoplasia of the tibia with polydactyly and two cases had tibial aplasia with split hand +/- foot of autosomal dominant inheritance. Of 40 cases, four were familial. Findings of a case-control study on this population-based and validated 10-year cohort showed a lower mean birth weight and a higher rate of low birth weight in cases with isolated radial and tibial deficiency.

Bone Diseases, Developmental↗
PubMed1993

An epidemiological study of isolated split hand/foot in Hungary, 1975-1984.

A population based and validated 10 year cohort of 94 cases with split hand/foot born in Hungary, 1975-1984 was evaluated. This type of congenital limb deficiency was relatively frequently (43%) associated with non-limb defects. Fifty-four cases with isolated split hand/foot are evaluated in this paper. A single limb was affected in 78% of cases. The upper limbs were 21 times more frequently affected in unimelic cases with a right sided predominance and male excess. Case-control analysis indicated intrauterine growth retardation and lower socioeconomic status of parents of cases. Family study showed six familial cases with autosomal dominant inheritance among 152 first and 452 second degree relatives. All familial cases were males.

Case-Control Studies↗
PubMed1992

Etiological study on isolated proximal intercalary type of congenital limb deficiency in Hungary, 1975-1984.

A population-based and validated data set of 14 cases with isolated proximal intercalary type of congenital limb deficiency born in Hungary between 1975-84 was evaluated. Two cases had phocomelia of upper limbs, while 12 cases were affected with classical intercalary defects mainly in femurs. Of 14 cases, 13 had unimelic manifestation and both sexes were equally affected. The intrauterine growth retardation, the excess of second birth order, a higher rate of acute maternal disorder of the respiratory system and the lack of familial cluster are noteworthy. The vascular disruption hypothesis seems to be the most plausible explanation for the origin of isolated proximal intercalary defects.

Birth Order↗
PubMed1991

[Prevalence of severe visual impairement in school-age children in Hungary].

The recorded prevalence of 6 to 14 year-old children with severe visual handicap was 0.43 per 1000 in Hungary, 1983/84. The territorial distribution showed significant difference in prevalences, the highest figures were found in two entities with three special institutions for severely visually handicapped children. Thus, the recorded figures are underascertained and the estimated rates are 0.52-0.60 and 0.21 per 1000 for children with severe visual handicap and, within it, blindness, respectively.

Adolescent↗
PubMed1991

[Split hand/foot abnormalities: classification, pathogenesis, epidemiology].

Authors report on the genetic epidemiologic investigation of one of the sentinel anomalies made on purpose to define the birth prevalence of the different types of it, to calculate the mutation rate of autosomal dominant forms as well as to recognize the clinical features of Hungarian cases. 58% of all cases registered in the Hungarian Congenital Abnormality Registry in 1975-1984 proved to be atypical. The birth prevalence of autosomal dominant forms was 1.33/100.000 total birth. 71% of dominant forms was sporadic since 29% was familial. Thus the mutation rate was estimated 4.7 x 10(-6) +/- 1.22 x 10(-6).

Female↗
PubMed1991

[Pathogenesis of severe vision deficiency in school-age children in Hungary].

A population-based aetiological study was carried out on 6 to 14 year-old severely visually handicapped children in Hungary. Of the 547 recorded cases 491 (90%) were included in the analysis. Eleven aetiological groups were separated: isolated cataracts (16.7%), congenital abnormalities of the eye (15.1%), high myopia +/- retinal detachment and other cases (13.4%), retinopathia praematurorum (11.0%), choroidoretinal degenerations (10.0%), syndromes (9.6%), nystagmus and/or hypermetropia (9.0%), isolated and complicated optic atrophy (6.7%), postnatal causes (4.9%), retinoblastoma (1.8%), praenatal causes (1.8%). A significantly higher rate of previous induced abortions was found in the group of retinopathia praematurorum. Perinatal damage syndrome and Mendelian monogenic defects are the two most common aetiological categories in the origin of severe visual handicaps in Hungary.

Adolescent↗
PubMed1991

[Holt-Oram syndrome].

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

Abnormalities, Multiple↗
PubMed1991

An aetiological study on 6 to 14 years-old children with severe visual handicap in Hungary.

A population-based aetiological study was carried out on 6 to 14 years-old severely visually handicapped children in Hungary. Of the 547 recorded cases 491 (90%) were included in the analysis. Eleven aetiological groups were separated: isolated cataracts (16.7%), congenital abnormalities of the eye (15.1%), high myopia +/- retinal detachment and other cases (13.4%), retinopathy of premature (11.0%), choroidoretinal degenerations (10.0%), syndromes (9.6%), nystagmus and/or hypermetropia (9.0%), isolated and complicated optic atrophy (6.7%), postnatal causes (4.9%), retinoblastoma (1.8%), prenatal causes (1.8%). A significantly higher rate of previous induced abortions was found in the group of retinopathy of premature. Perinatal damage syndrome and Mendelian monogenic defects are the two most common aetiological categories in the origin of severe visual handicaps in Hungary.

Adolescent↗
PubMed1991

Birth prevalence of different congenital limb deficiency types in a revised, population based Hungarian material, 1975-1984.

998 cases affected with limb reduction deficiency were evaluated in Hungary, 1975-1984. Through the check-up of other sources of ascertainments, the Hungarian Congenital Abnormality Registry was found to be 98.4% complete. The proportion of misdiagnoses was 12.6%. In the period encompassed by the study, the birth prevalence of revised cases affected with congenital limb reduction deficiency was 0.55 per 1000 total births. Isolated and multiple cases were separated. The birth prevalence of revised isolated cases was 0.35 per 1000. Six types were separated based on their phenotypic manifestations. As the number of affected limbs, ratio of isolated and multiple cases and sex ratio showed obvious differences, etiological factors should be evaluated separately in these different types of congenital limb deficiencies.

Congenital Abnormalities↗
PubMed1984

A semiquantitative score system for epidemiologic studies of fetal alcohol syndrome.

A total of 464 children of 323 women registered for alcoholism treatment in Budapest, Hungary, were studied in 1977-1979. A complex epidemiologic investigation was carried out using medical, psychological and anthropological data. The data were evaluated on the basis of a semiquantitative diagnostic scoring system for fetal alcohol syndrome. The score distribution curve for 301 children whose mothers imbibed during pregnancy was statistically significantly different from the score distribution curve for 163 children born to alcoholic mothers who remained abstinent during pregnancy and from the curve for a matched control group of 464 children. A significant difference was also found between the score distribution curves for the latter two groups. Twenty-five children of 301 drinkers (8.3%) scored below -30 points and were said to show typical manifestations of the syndrome. All of the mothers in this group imbibed large amounts of alcohol during pregnancy. A further 205 children of 464 alcoholic mothers (44.2%) scored between -30 and -10 points and were diagnosed as having an atypical form of the syndrome. Among the 205 children, 168 were the offspring of 301 drinkers (55.8%) and 37 were the offspring of 163 alcoholic females who were abstinent during pregnancy (22.7%). A stepwise discriminant analysis showed the best discriminating variables--in order of entry into the discriminant functions--to be current weight, nose-upper lip distance, behavioral disturbance (irritability), root of the nose, intelligence quotient, and palpebral fissure. The most important cause of fetal alcohol syndrome is the direct toxic effect of alcohol on the fetus.

Adult↗
PubMed1981

Etiological study of omphalocele.

The epidemiological, teratological and genetic data on 134 index patients with omphalocele (79 isolated and 55 multiple ones) and on 134 matched controls born in Hungary 1970-1976 were studied medical records and by retrospective interview. The stillbirth rate and infant mortality are significantly higher, and there is intrauterine weight retardation and more frequent preterm delivery. The distribution of maternal age-groups shows a 'U-shaped' trend in isolated omphalocele. Spontaneous abortions were significantly higher, particularly in previous pregnancies of mothers of index patients. A striking higher incidence of early and late toxaemia was found in the pregnancies of mothers of the isolated omphalocele group. Sib occurrence was not found in 161 brothers and sisters. Thus amniotic fluid AFP examination is not recommended in subsequent pregnancies. The occurrence of other congenital abnormalities corresponds to 'random' risk.

Abnormalities, Multiple↗
PubMed1981

Birth prevalence of five congenital abnormalities of medium frequency in Budapest.

In Budapest, 1970-1977, the birth prevalence of isolated renal agenesis, exomphalos-omphalocele, anal atresia, tracheo-oesophageal fistula with oesophageal atresia or stenosis, and diaphragmatic hernia was 0.23, 0.20, 0.18, 0.18 and 0.16, respectively, per 1000 total births. The birth prevalences of multiple abnormalities which were sharply distinguished from the isolated cases were in the order of the above-mentioned abnormalities 0.13, 0.19, 0.18, 0.14 and 0.19, respectively, per 1000 total births. The last ones are partly associations (e.g. VAcTERL) and partly random combinations. The rates of the capital Budapest might be representative for the birth prevalences of these congenital abnormalities in Hungary in the 1970's.

Anal Canal↗
PubMed1975

Determination of UTP and ATP pool sizes in human tonsillar lymphocytes by using Escherichia coli RNA polymerase.

The present paper describes a rapid, specific and sensitive method for quantitating ribonucleoside triphosphates (ATP and UTP) in cell extracts. The principle of the method is based on the synthesis of a ribonucleotide polymer in the presence of UTP, ATP and poly(dA-dT) as template. A method for calculation is also described, making the determination of UTP and ATP pool sizes in the cells possible under the same experimental conditions. The calculation takes into account the isotope dilution effect caused by the intracellular ATP. Our experiments show that the neutralized perchloric acid soluble fraction of human tonsillar lymphocytes contains no inhibitors for the RNA polymerase test. According to our results, this cell extract contains 80 pmol of UTP and 340 pmol of ATP per mug RNA.

Adenosine Triphosphate↗